Canonical Allele Identifier: CA2610046426
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

gnomAD v4: 10-87863646-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863646C>T , CM000672.2:g.87863646C>T GRCh38
NC_000010.10:g.89623403C>T , CM000672.1:g.89623403C>T GRCh37
NC_000010.9:g.89613383C>T NCBI36
NG_007466.2:g.5209C>T , LRG_311:g.5209C>T
NG_033079.1:g.4792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-824C>T (PTEN) ENSP00000514759.2:n.-824C>T
ENST00000710265.1:c.-824C>T (PTEN) ENSP00000518161.1:n.-824C>T
ENST00000706954.1:c.-16-808C>T (PTEN) ENSP00000516674.1:n.-16-808C>T
ENST00000706955.1:c.-824C>T (PTEN) ENSP00000516675.1:n.-824C>T
ENST00000688158.1:c.-824C>T (PTEN) ENSP00000509254.1:n.-824C>T
ENST00000688308.1:c.-17+533C>T (PTEN) ENSP00000508752.1:n.-17+533C>T
ENST00000692337.1:c.88C>T (MLDHR) ENSP00000509326.1:p.Gln30Ter
ENST00000693560.1:c.-304C>T (PTEN) ENSP00000509861.1:n.-304C>T
ENST00000371953.8:c.-824C>T (PTEN) MANE Select ENSP00000361021.3:n.-824C>T
ENST00000371953.7:c.-824C>T (PTEN) ENSP00000361021.3:n.-824C>T
ENST00000610634.1:c.-926C>T (PTEN) ENSP00000477517.1:n.-926C>T
NM_000314.5:c.-823C>T (PTEN) NP_000305.3:n.-823C>T
NM_000314.6:c.-823C>T (PTEN) NP_000305.3:n.-823C>T
NM_001304717.2:c.-304C>T (PTEN) NP_001291646.2:n.-304C>T
NM_001304718.1:c.-1528C>T (PTEN) NP_001291647.1:n.-1528C>T
NM_000314.7:c.-823C>T (PTEN) NP_000305.3:n.-823C>T
NM_001304717.5:c.-304C>T (PTEN) NP_001291646.4:n.-304C>T
NM_001304718.2:c.-1528C>T (PTEN) NP_001291647.1:n.-1528C>T
NM_000314.8:c.-824C>T (PTEN) MANE Select NP_000305.3:n.-824C>T
Search 100 bp 5'
Search 100 bp 3'